ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter) (rs1565923835)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687827 SCV000815415 pathogenic Aortic valve disease 2 2018-04-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TBX5 gene (p.Tyr368*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 151 amino acids of the TBX5 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TBX5-related disease. Several truncating variants (p.Tyr407*, p.Gln456*, p.Ala377Leufs*17, p.Ala384Aspfs*103, p.Ser387Lysfs*100) that lie downstream of this variant have been reported in individuals affected with TBX5-related disease (PMID: 25500235, 16917909, 17534187 , 12789647, 8988164). This suggests that deletion of this region of the TBX5 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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